Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3737331019 | FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3737332014 | FAST kinase domains 2-related infantile mitochondrial encephalomyopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3737333016 | FASTKD2-related infantile mitochondrial encephalomyopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3737334010 | A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 2 | |
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Is a | Mitochondrial encephalomyopathy (disorder) | true | Inferred relationship | Some | ||
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some | ||
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR